Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40018 single nucleotide variant KBTBD13, LYS390ASN -1 MedGen:C1836472,OMIM:609273 na -1 -1 na na 40019 single nucleotide variant NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) 387907090 MedGen:C1836472,OMIM:609273 15 65370375 65370375 C T 40019 single nucleotide variant NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) 387907090 MedGen:C1836472,OMIM:609273 15 65078037 65078037 C T 40020 single nucleotide variant NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) 200549195 MedGen:C1836472,OMIM:609273 15 65369895 65369895 C A 40020 single nucleotide variant NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) 200549195 MedGen:C1836472,OMIM:609273 15 65077557 65077557 C A 134751 single nucleotide variant NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) 116623596 MedGen:CN239448;MedGen:CN169374 15 65370281 65370281 G A 134751 single nucleotide variant NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) 116623596 MedGen:CN239448;MedGen:CN169374 15 65077943 65077943 G A 134752 single nucleotide variant NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) 150830358 MedGen:CN239448;MedGen:CN169374 15 65370350 65370350 C T 134752 single nucleotide variant NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) 150830358 MedGen:CN239448;MedGen:CN169374 15 65078012 65078012 C T 134753 single nucleotide variant NM_001101362.2(KBTBD13):c.1200T>C (p.Gly400=) 2919360 MedGen:CN239448;MedGen:CN169374 15 65370353 65370353 T C 134753 single nucleotide variant NM_001101362.2(KBTBD13):c.1200T>C (p.Gly400=) 2919360 MedGen:CN239448;MedGen:CN169374 15 65078015 65078015 T C 134754 single nucleotide variant NM_001101362.2(KBTBD13):c.242C>T (p.Ala81Val) 2919358 MedGen:CN239448;MedGen:CN169374 15 65369395 65369395 C T 134754 single nucleotide variant NM_001101362.2(KBTBD13):c.242C>T (p.Ala81Val) 2919358 MedGen:CN239448;MedGen:CN169374 15 65077057 65077057 C T 134755 single nucleotide variant NM_001101362.2(KBTBD13):c.378G>T (p.Ala126=) 2946642 MedGen:CN239448;MedGen:CN169374 15 65369531 65369531 G T 134755 single nucleotide variant NM_001101362.2(KBTBD13):c.378G>T (p.Ala126=) 2946642 MedGen:CN239448;MedGen:CN169374 15 65077193 65077193 G T 134756 single nucleotide variant NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) 146917406 MedGen:CN239448;MedGen:CN169374 15 65369947 65369947 G A 134756 single nucleotide variant NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) 146917406 MedGen:CN239448;MedGen:CN169374 15 65077609 65077609 G A 134757 single nucleotide variant NM_001101362.2(KBTBD13):c.798A>G (p.Glu266=) 2919359 MedGen:CN239448;MedGen:CN169374 15 65369951 65369951 A G 134757 single nucleotide variant NM_001101362.2(KBTBD13):c.798A>G (p.Glu266=) 2919359 MedGen:CN239448;MedGen:CN169374 15 65077613 65077613 A G 134758 single nucleotide variant NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) 368781046 MedGen:CN239448;MedGen:CN169374 15 65370107 65370107 C G 134758 single nucleotide variant NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) 368781046 MedGen:CN239448;MedGen:CN169374 15 65077769 65077769 C G 255320 single nucleotide variant NM_001101362.2(KBTBD13):c.-13C>T 147079462 MedGen:CN239448;MedGen:CN169374 15 65076803 65076803 C T 255320 single nucleotide variant NM_001101362.2(KBTBD13):c.-13C>T 147079462 MedGen:CN239448;MedGen:CN169374 15 65369141 65369141 C T 255321 single nucleotide variant NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) 138484272 MedGen:CN239448;MedGen:CN169374 15 65076904 65076904 G A 255321 single nucleotide variant NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) 138484272 MedGen:CN239448;MedGen:CN169374 15 65369242 65369242 G A 255322 single nucleotide variant NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) 551460635 MedGen:CN239448;MedGen:CN169374 15 65076978 65076978 G A 255322 single nucleotide variant NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) 551460635 MedGen:CN239448;MedGen:CN169374 15 65369316 65369316 G A 255323 single nucleotide variant NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) 202004658 MedGen:CN239448;MedGen:CN169374 15 65077003 65077003 A T 255323 single nucleotide variant NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) 202004658 MedGen:CN239448;MedGen:CN169374 15 65369341 65369341 A T 255324 single nucleotide variant NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) 550537101 MedGen:CN169374 15 65077029 65077029 C T 255324 single nucleotide variant NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) 550537101 MedGen:CN169374 15 65369367 65369367 C T 255325 single nucleotide variant NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) 115182478 MedGen:CN169374 15 65369399 65369399 G C 255325 single nucleotide variant NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) 115182478 MedGen:CN169374 15 65077061 65077061 G C 255326 single nucleotide variant NM_001101362.2(KBTBD13):c.295C>T (p.His99Tyr) 886038411 MedGen:CN169374 15 65369448 65369448 C T 255326 single nucleotide variant NM_001101362.2(KBTBD13):c.295C>T (p.His99Tyr) 886038411 MedGen:CN169374 15 65077110 65077110 C T 255327 single nucleotide variant NM_001101362.2(KBTBD13):c.876G>A (p.Pro292=) 543905658 MedGen:CN169374 15 65370029 65370029 G A 255327 single nucleotide variant NM_001101362.2(KBTBD13):c.876G>A (p.Pro292=) 543905658 MedGen:CN169374 15 65077691 65077691 G A 255328 single nucleotide variant NM_001101362.2(KBTBD13):c.880C>G (p.Pro294Ala) 560695692 MedGen:CN169374 15 65077695 65077695 C G 255328 single nucleotide variant NM_001101362.2(KBTBD13):c.880C>G (p.Pro294Ala) 560695692 MedGen:CN169374 15 65370033 65370033 C G 255329 single nucleotide variant NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) 199526404 MedGen:CN239448;MedGen:CN169374 15 65077892 65077892 A G 255329 single nucleotide variant NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) 199526404 MedGen:CN239448;MedGen:CN169374 15 65370230 65370230 A G 255330 single nucleotide variant NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) 116406369 MedGen:CN239448;MedGen:CN169374 15 65370516 65370516 A G 255330 single nucleotide variant NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) 116406369 MedGen:CN239448;MedGen:CN169374 15 65078178 65078178 A G 323055 single nucleotide variant NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn) 567309902 MedGen:CN239448 15 65077146 65077146 G A 323055 single nucleotide variant NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn) 567309902 MedGen:CN239448 15 65369484 65369484 G A 323056 single nucleotide variant NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) 188146580 MedGen:CN239448 15 65077148 65077148 C G 323056 single nucleotide variant NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) 188146580 MedGen:CN239448 15 65369486 65369486 C G 323063 single nucleotide variant NM_001101362.2(KBTBD13):c.751A>G (p.Thr251Ala) 757250245 MedGen:CN239448 15 65077566 65077566 A G 323063 single nucleotide variant NM_001101362.2(KBTBD13):c.751A>G (p.Thr251Ala) 757250245 MedGen:CN239448 15 65369904 65369904 A G 323065 single nucleotide variant NM_001101362.2(KBTBD13):c.1048C>G (p.Arg350Gly) 779744493 MedGen:CN239448 15 65077863 65077863 C G 323065 single nucleotide variant NM_001101362.2(KBTBD13):c.1048C>G (p.Arg350Gly) 779744493 MedGen:CN239448 15 65370201 65370201 C G 323066 single nucleotide variant NM_001101362.2(KBTBD13):c.*71C>T 886051337 MedGen:CN239448 15 65370601 65370601 C T 323066 single nucleotide variant NM_001101362.2(KBTBD13):c.*71C>T 886051337 MedGen:CN239448 15 65078263 65078263 C T 323067 single nucleotide variant NM_001101362.2(KBTBD13):c.*305C>T 2946643 MedGen:CN239448 15 65078497 65078497 C T 323067 single nucleotide variant NM_001101362.2(KBTBD13):c.*305C>T 2946643 MedGen:CN239448 15 65370835 65370835 C T 323072 single nucleotide variant NM_001101362.2(KBTBD13):c.*520A>G 12904843 MedGen:CN239448 15 65078712 65078712 A G 323072 single nucleotide variant NM_001101362.2(KBTBD13):c.*520A>G 12904843 MedGen:CN239448 15 65371050 65371050 A G 323074 deletion NM_001101362.2(KBTBD13):c.*548_*552delATAAA 886051340 MedGen:CN239448 15 65078740 65078744 ATAAA - 323074 deletion NM_001101362.2(KBTBD13):c.*548_*552delATAAA 886051340 MedGen:CN239448 15 65371078 65371082 ATAAA - 323075 single nucleotide variant NM_001101362.2(KBTBD13):c.*694T>C 886051341 MedGen:CN239448 15 65078886 65078886 T C 323075 single nucleotide variant NM_001101362.2(KBTBD13):c.*694T>C 886051341 MedGen:CN239448 15 65371224 65371224 T C 323076 single nucleotide variant NM_001101362.2(KBTBD13):c.*995T>C 146228424 MedGen:CN239448 15 65079187 65079187 T C 323076 single nucleotide variant NM_001101362.2(KBTBD13):c.*995T>C 146228424 MedGen:CN239448 15 65371525 65371525 T C 323077 single nucleotide variant NM_001101362.2(KBTBD13):c.*1112C>T 886051342 MedGen:CN239448 15 65371642 65371642 C T 323077 single nucleotide variant NM_001101362.2(KBTBD13):c.*1112C>T 886051342 MedGen:CN239448 15 65079304 65079304 C T 332658 single nucleotide variant NM_001101362.2(KBTBD13):c.252C>T (p.Cys84=) 886051334 MedGen:CN239448 15 65077067 65077067 C T 332658 single nucleotide variant NM_001101362.2(KBTBD13):c.252C>T (p.Cys84=) 886051334 MedGen:CN239448 15 65369405 65369405 C T 332661 single nucleotide variant NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) 373039171 MedGen:CN239448 15 65077209 65077209 G A 332661 single nucleotide variant NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) 373039171 MedGen:CN239448 15 65369547 65369547 G A 332665 single nucleotide variant NM_001101362.2(KBTBD13):c.516C>G (p.Asp172Glu) 142592180 MedGen:CN239448 15 65077331 65077331 C G 332665 single nucleotide variant NM_001101362.2(KBTBD13):c.516C>G (p.Asp172Glu) 142592180 MedGen:CN239448 15 65369669 65369669 C G 332666 single nucleotide variant NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) 200549195 MedGen:CN239448;MedGen:CN169374 15 65077557 65077557 C T 332666 single nucleotide variant NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) 200549195 MedGen:CN239448;MedGen:CN169374 15 65369895 65369895 C T 332668 single nucleotide variant NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) 568675071 MedGen:CN239448 15 65077584 65077584 G C 332668 single nucleotide variant NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) 568675071 MedGen:CN239448 15 65369922 65369922 G C 332669 single nucleotide variant NM_001101362.2(KBTBD13):c.*41C>T 185053492 MedGen:CN239448 15 65078233 65078233 C T 332669 single nucleotide variant NM_001101362.2(KBTBD13):c.*41C>T 185053492 MedGen:CN239448 15 65370571 65370571 C T 332671 duplication NM_001101362.2(KBTBD13):c.*387dupA 886051339 MedGen:CN239448 15 65078579 65078579 A AA 332671 duplication NM_001101362.2(KBTBD13):c.*387dupA 886051339 MedGen:CN239448 15 65370917 65370917 A AA 332684 single nucleotide variant NM_001101362.2(KBTBD13):c.*684C>T 549339931 MedGen:CN239448 15 65078876 65078876 C T 332684 single nucleotide variant NM_001101362.2(KBTBD13):c.*684C>T 549339931 MedGen:CN239448 15 65371214 65371214 C T 332687 single nucleotide variant NM_001101362.2(KBTBD13):c.*1514T>C 189406063 MedGen:CN239448 15 65079706 65079706 T C 332687 single nucleotide variant NM_001101362.2(KBTBD13):c.*1514T>C 189406063 MedGen:CN239448 15 65372044 65372044 T C 332689 single nucleotide variant NM_001101362.2(KBTBD13):c.*1611G>A 16948496 MedGen:CN239448 15 65079803 65079803 G A 332689 single nucleotide variant NM_001101362.2(KBTBD13):c.*1611G>A 16948496 MedGen:CN239448 15 65372141 65372141 G A 332692 single nucleotide variant NM_001101362.2(KBTBD13):c.*1650T>C 142046728 MedGen:CN239448 15 65079842 65079842 T C 332692 single nucleotide variant NM_001101362.2(KBTBD13):c.*1650T>C 142046728 MedGen:CN239448 15 65372180 65372180 T C 339674 single nucleotide variant NM_001101362.2(KBTBD13):c.924C>T (p.Phe308=) 886051335 MedGen:CN239448 15 65370077 65370077 C T 339675 single nucleotide variant NM_001101362.2(KBTBD13):c.1101C>T (p.Cys367=) 543844534 MedGen:CN239448 15 65077916 65077916 C T 339671 single nucleotide variant NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) 550724858 MedGen:CN239448 15 65077286 65077286 C T 339671 single nucleotide variant NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) 550724858 MedGen:CN239448 15 65369624 65369624 C T 339674 single nucleotide variant NM_001101362.2(KBTBD13):c.924C>T (p.Phe308=) 886051335 MedGen:CN239448 15 65077739 65077739 C T 339675 single nucleotide variant NM_001101362.2(KBTBD13):c.1101C>T (p.Cys367=) 543844534 MedGen:CN239448 15 65370254 65370254 C T 339678 deletion NM_001101362.2(KBTBD13):c.*1123_*1125delCTC 886051343 MedGen:CN239448 15 65079315 65079317 CTC - 339678 deletion NM_001101362.2(KBTBD13):c.*1123_*1125delCTC 886051343 MedGen:CN239448 15 65371653 65371655 CTC - 339680 single nucleotide variant NM_001101362.2(KBTBD13):c.*1276G>T 886051344 MedGen:CN239448 15 65079468 65079468 G T 339680 single nucleotide variant NM_001101362.2(KBTBD13):c.*1276G>T 886051344 MedGen:CN239448 15 65371806 65371806 G T 339685 single nucleotide variant NM_001101362.2(KBTBD13):c.*1499T>C 117320020 MedGen:CN239448 15 65079691 65079691 T C 339685 single nucleotide variant NM_001101362.2(KBTBD13):c.*1499T>C 117320020 MedGen:CN239448 15 65372029 65372029 T C 339692 single nucleotide variant NM_001101362.2(KBTBD13):c.*1556G>A 148606250 MedGen:CN239448 15 65079748 65079748 G A 339692 single nucleotide variant NM_001101362.2(KBTBD13):c.*1556G>A 148606250 MedGen:CN239448 15 65372086 65372086 G A 341028 single nucleotide variant NM_001101362.2(KBTBD13):c.7C>T (p.Arg3Trp) 766815771 MedGen:CN239448 15 65076822 65076822 C T 341028 single nucleotide variant NM_001101362.2(KBTBD13):c.7C>T (p.Arg3Trp) 766815771 MedGen:CN239448 15 65369160 65369160 C T 341029 single nucleotide variant NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) 367684457 MedGen:CN239448 15 65076932 65076932 C T 341029 single nucleotide variant NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) 367684457 MedGen:CN239448 15 65369270 65369270 C T 341034 single nucleotide variant NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu) 777431652 MedGen:CN239448 15 65077043 65077043 C G 341034 single nucleotide variant NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu) 777431652 MedGen:CN239448 15 65369381 65369381 C G 341041 single nucleotide variant NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) 886051333 MedGen:CN239448 15 65077053 65077053 C T 341041 single nucleotide variant NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) 886051333 MedGen:CN239448 15 65369391 65369391 C T 341042 single nucleotide variant NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) 201466173 MedGen:CN239448 15 65077176 65077176 G A 341042 single nucleotide variant NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) 201466173 MedGen:CN239448 15 65369514 65369514 G A 341051 single nucleotide variant NM_001101362.2(KBTBD13):c.844G>A (p.Ala282Thr) 375482474 MedGen:CN239448 15 65077659 65077659 G A 341051 single nucleotide variant NM_001101362.2(KBTBD13):c.844G>A (p.Ala282Thr) 375482474 MedGen:CN239448 15 65369997 65369997 G A 341054 single nucleotide variant NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) 184130258 MedGen:CN239448 15 65077796 65077796 C G 341054 single nucleotide variant NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) 184130258 MedGen:CN239448 15 65370134 65370134 C G 341055 single nucleotide variant NM_001101362.2(KBTBD13):c.*33C>T 886051336 MedGen:CN239448 15 65078225 65078225 C T 341055 single nucleotide variant NM_001101362.2(KBTBD13):c.*33C>T 886051336 MedGen:CN239448 15 65370563 65370563 C T 341056 deletion NM_001101362.2(KBTBD13):c.*114_*115delAC 886051338 MedGen:CN239448 15 65370644 65370645 AC - 341056 deletion NM_001101362.2(KBTBD13):c.*114_*115delAC 886051338 MedGen:CN239448 15 65078306 65078307 AC - 341058 single nucleotide variant NM_001101362.2(KBTBD13):c.*122T>C 12901617 MedGen:CN239448 15 65078314 65078314 T C 341058 single nucleotide variant NM_001101362.2(KBTBD13):c.*122T>C 12901617 MedGen:CN239448 15 65370652 65370652 T C 341061 single nucleotide variant NM_001101362.2(KBTBD13):c.*846G>T 17804968 MedGen:CN239448 15 65079038 65079038 G T 341061 single nucleotide variant NM_001101362.2(KBTBD13):c.*846G>T 17804968 MedGen:CN239448 15 65371376 65371376 G T 341062 single nucleotide variant NM_001101362.2(KBTBD13):c.*897A>G 12905499 MedGen:CN239448 15 65079089 65079089 A G 341062 single nucleotide variant NM_001101362.2(KBTBD13):c.*897A>G 12905499 MedGen:CN239448 15 65371427 65371427 A G 341063 single nucleotide variant NM_001101362.2(KBTBD13):c.*1075C>T 75894955 MedGen:CN239448 15 65079267 65079267 C T 341063 single nucleotide variant NM_001101362.2(KBTBD13):c.*1075C>T 75894955 MedGen:CN239448 15 65371605 65371605 C T 341064 single nucleotide variant NM_001101362.2(KBTBD13):c.*1122C>T 111801368 MedGen:CN239448 15 65079314 65079314 C T 341064 single nucleotide variant NM_001101362.2(KBTBD13):c.*1122C>T 111801368 MedGen:CN239448 15 65371652 65371652 C T 341065 single nucleotide variant NM_001101362.2(KBTBD13):c.*1306T>G 541447859 MedGen:CN239448 15 65079498 65079498 T G 341065 single nucleotide variant NM_001101362.2(KBTBD13):c.*1306T>G 541447859 MedGen:CN239448 15 65371836 65371836 T G 341068 single nucleotide variant NM_001101362.2(KBTBD13):c.*1421C>T 374389911 MedGen:CN239448 15 65079613 65079613 C T 341068 single nucleotide variant NM_001101362.2(KBTBD13):c.*1421C>T 374389911 MedGen:CN239448 15 65371951 65371951 C T 341069 single nucleotide variant NM_001101362.2(KBTBD13):c.*1582C>T 111882334 MedGen:CN239448 15 65079774 65079774 C T 341069 single nucleotide variant NM_001101362.2(KBTBD13):c.*1582C>T 111882334 MedGen:CN239448 15 65372112 65372112 C T 353325 single nucleotide variant NM_001101362.2(KBTBD13):c.*1758T>G 151148121 MedGen:CN239448 15 65372288 65372288 T G 353325 single nucleotide variant NM_001101362.2(KBTBD13):c.*1758T>G 151148121 MedGen:CN239448 15 65079950 65079950 T G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000234438.3 KBTBD13 613727